Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4366001:Sh3bp4'

554733

Institutional Source

Beutler Lab

Gene Symbol

Sh3bp4

Ensembl Gene

ENSMUSG00000036206

Gene Name

SH3-domain binding protein 4

Synonyms

BOG25

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4366001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89070415-89155068 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89145434 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 668 (N668S)

Ref Sequence

ENSEMBL: ENSMUSP00000067581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066279]

AlphaFold

Q921I6

Predicted Effect

probably benign
Transcript: ENSMUST00000066279
AA Change: N668S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000067581
Gene: ENSMUSG00000036206
AA Change: N668S

Domain	Start	End	E-Value	Type
SH3	58	113	5.04e-13	SMART
low complexity region	196	212	N/A	INTRINSIC
Pfam:ZU5	318	411	1.8e-12	PFAM
Pfam:SH3_2	657	721	3.5e-13	PFAM

Coding Region Coverage

1x: 93.0%
3x: 90.7%
10x: 85.5%
20x: 73.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein receptor. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	A	11: 120,010,960	S870I	possibly damaging	Het
Abca13	T	C	11: 9,294,962	V2275A	probably benign	Het
Abcb5	T	C	12: 118,936,098	K278R	probably damaging	Het
Adcy2	TA	TAA	13: 68,709,990		probably benign	Het
Add3	C	T	19: 53,216,867	P16L	unknown	Het
Akap9	T	A	5: 4,046,221	D2365E	probably benign	Het
Asah1	A	G	8: 41,343,746	S300P	possibly damaging	Het
Astn1	A	T	1: 158,597,209	H655L	probably benign	Het
Astn1	A	T	1: 158,597,211	I656F	probably benign	Het
Bmpr1b	T	A	3: 141,880,463	T13S	probably benign	Het
Camsap2	A	G	1: 136,280,317	F478L		Het
Card10	G	A	15: 78,787,431	S611L	probably benign	Het
Cep68	T	C	11: 20,240,007	N335S	probably benign	Het
Chac1	T	C	2: 119,351,505	W35R	probably damaging	Het
Cntn6	T	C	6: 104,832,537	V511A	probably benign	Het
Cpne9	G	T	6: 113,294,746	G356W	probably damaging	Het
Dnah10	C	A	5: 124,775,524	T1939K	possibly damaging	Het
Dock10	T	C	1: 80,595,721	N239D	probably benign	Het
Dock5	T	C	14: 67,824,674	K415R	possibly damaging	Het
Dtd2	C	A	12: 51,999,799	D86Y	probably damaging	Het
Efcab9	A	G	11: 32,523,608	F127S	probably damaging	Het
Ermp1	T	C	19: 29,628,789	H375R	probably benign	Het
Frem2	A	T	3: 53,653,201	M1295K	probably damaging	Het
Gbp7	T	G	3: 142,542,951	I325R	probably benign	Het
Gpr179	T	C	11: 97,336,851	K1493E	probably benign	Het
Gucy2g	T	A	19: 55,237,782	E234V	probably null	Het
Itpr1	T	A	6: 108,493,757	C2215*	probably null	Het
Ltn1	G	A	16: 87,380,840	R1634*	probably null	Het
Lynx1	A	T	15: 74,751,409	M58K	possibly damaging	Het
Macc1	T	C	12: 119,446,949	V484A	probably benign	Het
Map3k9	C	T	12: 81,772,761	V240M	possibly damaging	Het
Marc1	A	G	1: 184,807,186	F96S	probably benign	Het
Mars	A	G	10: 127,299,398	M608T	possibly damaging	Het
Mc2r	T	C	18: 68,407,755	M156V	probably benign	Het
Mchr1	G	T	15: 81,237,216	V56L	probably benign	Het
Mlxip	C	T	5: 123,395,110	P61S	probably benign	Het
Muc4	A	G	16: 32,754,796	T1557A	unknown	Het
Myt1	T	C	2: 181,825,938	V1135A	probably damaging	Het
Ndufaf6	A	T	4: 11,073,215	S76T	probably benign	Het
Ntrk2	A	G	13: 59,060,335	Y665C	probably damaging	Het
Oaz3	T	G	3: 94,433,594	R215S	unknown	Het
Olfr1022	T	C	2: 85,868,882	C97R	probably damaging	Het
Olfr1031	A	T	2: 85,992,041	N75Y	probably damaging	Het
Olfr1133	C	T	2: 87,645,190	W311*	probably null	Het
Olfr417	T	C	1: 174,369,090	Y58H	probably damaging	Het
Perm1	G	T	4: 156,218,735	V579L	probably benign	Het
Phyhipl	A	G	10: 70,568,958	V140A	probably benign	Het
Pip5k1c	T	A	10: 81,309,008	S228T	probably damaging	Het
Plekhn1	T	G	4: 156,224,811	T213P	probably damaging	Het
Pomt2	A	T	12: 87,116,529		probably null	Het
Ptcd1	A	G	5: 145,151,335	V622A	probably benign	Het
Ptn	T	A	6: 36,741,349	H127L	probably benign	Het
Ptprk	A	T	10: 28,586,019	M1193L	probably benign	Het
Ptpru	G	A	4: 131,799,712	P650S	probably benign	Het
Pum2	T	A	12: 8,733,390	L613Q	probably damaging	Het
Rapgef6	A	G	11: 54,691,620	T1458A	probably damaging	Het
Sap130	C	T	18: 31,677,409	A470V	probably benign	Het
Sertad2	C	A	11: 20,648,116	P104Q	probably benign	Het
Sfrp4	A	T	13: 19,630,244	M324L	unknown	Het
Snx30	C	A	4: 59,894,653	D410E	probably benign	Het
Spata31	C	A	13: 64,921,505	S489*	probably null	Het
Taok3	T	A	5: 117,227,985	M367K	probably benign	Het
Tfap2a	T	C	13: 40,721,374	N254D	possibly damaging	Het
Tgtp1	T	G	11: 48,987,040	L279F	possibly damaging	Het
Tmpo	A	G	10: 91,163,310	F205S	probably damaging	Het
Tmprss5	A	T	9: 49,112,217	I218L	probably benign	Het
Tti2	A	G	8: 31,151,196	E116G	probably benign	Het
Vmn2r59	A	T	7: 42,045,781	N402K	possibly damaging	Het

Other mutations in Sh3bp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01062:Sh3bp4	APN	1	89143960	missense	probably benign
IGL01344:Sh3bp4	APN	1	89153236	missense	probably benign
IGL02025:Sh3bp4	APN	1	89145286	missense	probably benign	0.40
IGL02035:Sh3bp4	APN	1	89143690	missense	probably benign	0.00
IGL02389:Sh3bp4	APN	1	89145148	missense	probably damaging	0.99
IGL02430:Sh3bp4	APN	1	89153163	missense	probably null	0.00
IGL02546:Sh3bp4	APN	1	89143544	splice site	probably benign
IGL03327:Sh3bp4	APN	1	89144163	nonsense	probably null
I0000:Sh3bp4	UTSW	1	89137796	missense	probably benign	0.01
R0128:Sh3bp4	UTSW	1	89145314	missense	possibly damaging	0.54
R0130:Sh3bp4	UTSW	1	89145314	missense	possibly damaging	0.54
R1370:Sh3bp4	UTSW	1	89143772	missense	probably benign	0.43
R1500:Sh3bp4	UTSW	1	89145488	missense	probably damaging	1.00
R2269:Sh3bp4	UTSW	1	89145592	missense	possibly damaging	0.62
R3407:Sh3bp4	UTSW	1	89145047	missense	possibly damaging	0.86
R3408:Sh3bp4	UTSW	1	89145047	missense	possibly damaging	0.86
R3615:Sh3bp4	UTSW	1	89137705	missense	probably damaging	0.99
R3616:Sh3bp4	UTSW	1	89137705	missense	probably damaging	0.99
R3721:Sh3bp4	UTSW	1	89145328	missense	possibly damaging	0.93
R3983:Sh3bp4	UTSW	1	89145869	missense	probably benign	0.00
R4631:Sh3bp4	UTSW	1	89144273	missense	probably damaging	1.00
R5024:Sh3bp4	UTSW	1	89145595	missense	probably damaging	1.00
R5040:Sh3bp4	UTSW	1	89144240	missense	probably damaging	1.00
R5249:Sh3bp4	UTSW	1	89137734	missense	probably damaging	1.00
R5306:Sh3bp4	UTSW	1	89144275	missense	probably damaging	0.99
R5319:Sh3bp4	UTSW	1	89145350	missense	probably benign
R5908:Sh3bp4	UTSW	1	89145883	missense	probably damaging	0.99
R6296:Sh3bp4	UTSW	1	89145489	missense	probably damaging	1.00
R6572:Sh3bp4	UTSW	1	89144921	missense	possibly damaging	0.78
R6660:Sh3bp4	UTSW	1	89153166	missense	possibly damaging	0.62
R6900:Sh3bp4	UTSW	1	89145767	missense	probably benign	0.00
R7319:Sh3bp4	UTSW	1	89153102	splice site	probably null
R7320:Sh3bp4	UTSW	1	89145494	missense	probably damaging	1.00
R7393:Sh3bp4	UTSW	1	89144448	missense	possibly damaging	0.79
R7516:Sh3bp4	UTSW	1	89145646	missense	probably damaging	1.00
R8402:Sh3bp4	UTSW	1	89145315	missense	probably benign	0.00
R8899:Sh3bp4	UTSW	1	89145575	missense	probably benign	0.45
R8915:Sh3bp4	UTSW	1	89152342	missense	probably damaging	0.99
R8953:Sh3bp4	UTSW	1	89144437	missense	probably damaging	0.97
R9137:Sh3bp4	UTSW	1	89144925	nonsense	probably null
R9718:Sh3bp4	UTSW	1	89145750	missense	probably damaging	0.99
RF016:Sh3bp4	UTSW	1	89145022	missense	probably benign
Z1176:Sh3bp4	UTSW	1	89145728	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- TTTGTGTCCAGACTCCGCAG -3'
(R):5'- TCCGCACAGAGGCATAGATG -3'

Sequencing Primer
(F):5'- GCAGCCGCCCCCTAAAAG -3'
(R):5'- AGGAACTTGCAGGGCCG -3'

Posted On

2019-06-07